FHIT
fragile histidine triad diadenosine triphosphatase
Summary
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1217980455 | 3:59,737,966 | C/T | — | uncertain significance |
| rs138098162 | 3:59,737,970 | C/T | — | likely benign |
| rs200185369 | 3:59,737,975 | C/A | — | uncertain significance |
| rs1418764214 | 3:59,737,984 | C/T | — | uncertain significance |
| rs780365 | 3:59,761,789 | T/G | — | — |
| rs606735 | 3:59,852,168 | T/C | intron variant | — |
| rs1825630 | 3:59,902,801 | C/T | intron variant | — |
| rs535578829 | 3:59,908,074 | C/T | — | likely benign |
| rs141172262 | 3:59,908,079 | T/C | — | uncertain significance |
| rs1320397794 | 3:59,908,091 | T/C | — | uncertain significance |
| rs533270218 | 3:59,908,119 | G/A | — | likely benign |
| rs4502542 | 3:59,921,020 | T/C | regulatory region variant | — |
| rs931317 | 3:59,928,851 | A/G | intron variant | — |
| rs3772458 | 3:59,939,373 | G/T | intron variant | — |
| rs3772468 | 3:59,954,966 | T/C | downstream gene variant | — |
| rs3821478 | 3:59,955,193 | T/G | — | — |
| rs212016 | 3:59,981,525 | T/C | intron variant | — |
| rs746933635 | 3:59,999,740 | G/C | — | uncertain significance |
| rs763169582 | 3:59,999,783 | T/C | — | uncertain significance |
| rs2471970548 | 3:59,999,788 | A/C | — | uncertain significance |
| rs148747004 | 3:59,999,800 | G/A | — | uncertain significance |
| rs755667398 | 3:59,999,830 | C/T | — | uncertain significance |
| rs575922146 | 3:59,999,845 | C/T | — | uncertain significance |
| rs757050854 | 3:59,999,866 | C/T | — | uncertain significance |
| rs112639626 | 3:59,999,942 | A/G | — | likely benign |
| rs9311745 | 3:60,001,825 | T/C | intron variant | — |
| rs577116391 | 3:60,006,696 | C/T | — | — |
| rs12636241 | 3:60,077,040 | G/T | — | — |
| rs149826402 | 3:60,091,687 | A/G | intron variant | — |
| rs10510829 | 3:60,123,522 | A/G | intron variant | — |
| rs11130760 | 3:60,196,537 | G/T | intron variant | association |
| rs10510837 | 3:60,289,842 | G/A | regulatory region variant | — |
| rs4679529 | 3:60,299,184 | C/G | — | — |
| rs412104 | 3:60,438,683 | T/G | intron variant | — |
| rs2734388 | 3:60,452,282 | C/A | — | — |
| rs492308 | 3:60,452,732 | A/G | intron variant | — |
| rs493345 | 3:60,452,873 | A/G | intron variant | — |
| rs80171647 | 3:60,508,340 | G/T | intron variant | — |
| rs186677894 | 3:60,515,660 | T/A | intron variant | — |
| rs746373823 | 3:60,522,627 | G/A | — | likely benign |
| rs145241193 | 3:60,522,640 | G/A | — | uncertain significance |
| rs376454237 | 3:60,522,658 | G/T | — | uncertain significance |
| rs368805366 | 3:60,522,671 | G/C | — | uncertain significance |
| rs137953369 | 3:60,522,690 | C/A | — | benign |
| rs11919041 | 3:60,763,256 | G/A | — | — |
| rs6791644 | 3:60,771,108 | A/C | — | — |
| rs2736748 | 3:60,815,608 | A/G | intron variant | — |
| rs2736750 | 3:60,816,908 | G/A | intron variant | — |
| rs34220367 | 3:60,848,763 | G/T | intron variant | — |
| rs6764919 | 3:60,879,538 | G/A | intron variant | — |
| rs62251572 | 3:60,904,762 | G/A | intron variant | — |
| rs531245799 | 3:60,948,086 | C/T | — | — |
| rs6782531 | 3:60,995,600 | G/C | intron variant | — |
| rs9816087 | 3:61,144,081 | C/A | intron variant | — |
| rs1554600 | 3:61,157,774 | G/C | intron variant | — |
| rs202160422 | 3:61,175,779 | A/G | — | — |
| rs1470035 | 3:61,184,321 | G/C | — | — |
| rs766488186 | 3:61,186,129 | A/G | — | — |
| rs1916801 | 3:61,187,046 | A/C | — | — |
| rs12492105 | 3:61,191,923 | T/A | — | — |
| rs141954845 | 3:61,192,911 | G/A | intron variant | — |
| rs149114999 | 3:61,197,721 | T/A | — | — |
| rs4688359 | 3:61,198,880 | C/T | intron variant | — |
| rs77771121 | 3:61,221,102 | A/T | intron variant | — |
| rs1916799 | 3:61,232,975 | G/A | intron variant | — |
| rs149190320 | 3:61,237,105 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.